ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.407G>A (p.Arg136Lys)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.407G>A (p.Arg136Lys)
Variation ID: 1051488 Accession: VCV001051488.8
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43104156 (GRCh38) [ NCBI UCSC ] 17: 41256173 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 13, 2021 Feb 28, 2024 Jul 20, 2020 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.407G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Arg136Lys missense NM_001407571.1:c.197G>A NP_001394500.1:p.Arg66Lys missense NM_001407581.1:c.407G>A NP_001394510.1:p.Arg136Lys missense NM_001407582.1:c.407G>A NP_001394511.1:p.Arg136Lys missense NM_001407583.1:c.407G>A NP_001394512.1:p.Arg136Lys missense NM_001407585.1:c.407G>A NP_001394514.1:p.Arg136Lys missense NM_001407587.1:c.407G>A NP_001394516.1:p.Arg136Lys missense NM_001407590.1:c.407G>A NP_001394519.1:p.Arg136Lys missense NM_001407591.1:c.407G>A NP_001394520.1:p.Arg136Lys missense NM_001407593.1:c.407G>A NP_001394522.1:p.Arg136Lys missense NM_001407594.1:c.407G>A NP_001394523.1:p.Arg136Lys missense NM_001407596.1:c.407G>A NP_001394525.1:p.Arg136Lys missense NM_001407597.1:c.407G>A NP_001394526.1:p.Arg136Lys missense NM_001407598.1:c.407G>A NP_001394527.1:p.Arg136Lys missense NM_001407602.1:c.407G>A NP_001394531.1:p.Arg136Lys missense NM_001407603.1:c.407G>A NP_001394532.1:p.Arg136Lys missense NM_001407605.1:c.407G>A NP_001394534.1:p.Arg136Lys missense NM_001407610.1:c.407G>A NP_001394539.1:p.Arg136Lys missense NM_001407611.1:c.407G>A NP_001394540.1:p.Arg136Lys missense NM_001407612.1:c.407G>A NP_001394541.1:p.Arg136Lys missense NM_001407613.1:c.407G>A NP_001394542.1:p.Arg136Lys missense NM_001407614.1:c.407G>A NP_001394543.1:p.Arg136Lys missense NM_001407615.1:c.407G>A NP_001394544.1:p.Arg136Lys missense NM_001407616.1:c.407G>A NP_001394545.1:p.Arg136Lys missense NM_001407617.1:c.407G>A NP_001394546.1:p.Arg136Lys missense NM_001407618.1:c.407G>A NP_001394547.1:p.Arg136Lys missense NM_001407619.1:c.407G>A NP_001394548.1:p.Arg136Lys missense NM_001407620.1:c.407G>A NP_001394549.1:p.Arg136Lys missense NM_001407621.1:c.407G>A NP_001394550.1:p.Arg136Lys missense NM_001407622.1:c.407G>A NP_001394551.1:p.Arg136Lys missense NM_001407623.1:c.407G>A NP_001394552.1:p.Arg136Lys missense NM_001407624.1:c.407G>A NP_001394553.1:p.Arg136Lys missense NM_001407625.1:c.407G>A NP_001394554.1:p.Arg136Lys missense NM_001407626.1:c.407G>A NP_001394555.1:p.Arg136Lys missense NM_001407627.1:c.407G>A NP_001394556.1:p.Arg136Lys missense NM_001407628.1:c.407G>A NP_001394557.1:p.Arg136Lys missense NM_001407629.1:c.407G>A NP_001394558.1:p.Arg136Lys missense NM_001407630.1:c.407G>A NP_001394559.1:p.Arg136Lys missense NM_001407631.1:c.407G>A NP_001394560.1:p.Arg136Lys missense NM_001407632.1:c.407G>A NP_001394561.1:p.Arg136Lys missense NM_001407633.1:c.407G>A NP_001394562.1:p.Arg136Lys missense NM_001407634.1:c.407G>A NP_001394563.1:p.Arg136Lys missense NM_001407635.1:c.407G>A NP_001394564.1:p.Arg136Lys missense NM_001407636.1:c.407G>A NP_001394565.1:p.Arg136Lys missense NM_001407637.1:c.407G>A NP_001394566.1:p.Arg136Lys missense NM_001407638.1:c.407G>A NP_001394567.1:p.Arg136Lys missense NM_001407639.1:c.407G>A NP_001394568.1:p.Arg136Lys missense NM_001407640.1:c.407G>A NP_001394569.1:p.Arg136Lys missense NM_001407641.1:c.407G>A NP_001394570.1:p.Arg136Lys missense NM_001407642.1:c.407G>A NP_001394571.1:p.Arg136Lys missense NM_001407644.1:c.407G>A NP_001394573.1:p.Arg136Lys missense NM_001407645.1:c.407G>A NP_001394574.1:p.Arg136Lys missense NM_001407646.1:c.398G>A NP_001394575.1:p.Arg133Lys missense NM_001407647.1:c.398G>A NP_001394576.1:p.Arg133Lys missense NM_001407648.1:c.407G>A NP_001394577.1:p.Arg136Lys missense NM_001407649.1:c.407G>A NP_001394578.1:p.Arg136Lys missense NM_001407652.1:c.407G>A NP_001394581.1:p.Arg136Lys missense NM_001407653.1:c.329G>A NP_001394582.1:p.Arg110Lys missense NM_001407654.1:c.329G>A NP_001394583.1:p.Arg110Lys missense NM_001407655.1:c.329G>A NP_001394584.1:p.Arg110Lys missense NM_001407656.1:c.329G>A NP_001394585.1:p.Arg110Lys missense NM_001407657.1:c.329G>A NP_001394586.1:p.Arg110Lys missense NM_001407658.1:c.329G>A NP_001394587.1:p.Arg110Lys missense NM_001407659.1:c.329G>A NP_001394588.1:p.Arg110Lys missense NM_001407660.1:c.329G>A NP_001394589.1:p.Arg110Lys missense NM_001407661.1:c.329G>A NP_001394590.1:p.Arg110Lys missense NM_001407662.1:c.329G>A NP_001394591.1:p.Arg110Lys missense NM_001407663.1:c.329G>A NP_001394592.1:p.Arg110Lys missense NM_001407664.1:c.407G>A NP_001394593.1:p.Arg136Lys missense NM_001407665.1:c.407G>A NP_001394594.1:p.Arg136Lys missense NM_001407666.1:c.407G>A NP_001394595.1:p.Arg136Lys missense NM_001407667.1:c.407G>A NP_001394596.1:p.Arg136Lys missense NM_001407668.1:c.407G>A NP_001394597.1:p.Arg136Lys missense NM_001407669.1:c.407G>A NP_001394598.1:p.Arg136Lys missense NM_001407670.1:c.407G>A NP_001394599.1:p.Arg136Lys missense NM_001407671.1:c.407G>A NP_001394600.1:p.Arg136Lys missense NM_001407672.1:c.407G>A NP_001394601.1:p.Arg136Lys missense NM_001407673.1:c.407G>A NP_001394602.1:p.Arg136Lys missense NM_001407674.1:c.407G>A NP_001394603.1:p.Arg136Lys missense NM_001407675.1:c.407G>A NP_001394604.1:p.Arg136Lys missense NM_001407676.1:c.407G>A NP_001394605.1:p.Arg136Lys missense NM_001407677.1:c.407G>A NP_001394606.1:p.Arg136Lys missense NM_001407678.1:c.407G>A NP_001394607.1:p.Arg136Lys missense NM_001407679.1:c.407G>A NP_001394608.1:p.Arg136Lys missense NM_001407680.1:c.407G>A NP_001394609.1:p.Arg136Lys missense NM_001407681.1:c.407G>A NP_001394610.1:p.Arg136Lys missense NM_001407682.1:c.407G>A NP_001394611.1:p.Arg136Lys missense NM_001407683.1:c.407G>A NP_001394612.1:p.Arg136Lys missense NM_001407684.1:c.407G>A NP_001394613.1:p.Arg136Lys missense NM_001407685.1:c.407G>A NP_001394614.1:p.Arg136Lys missense NM_001407686.1:c.407G>A NP_001394615.1:p.Arg136Lys missense NM_001407687.1:c.407G>A NP_001394616.1:p.Arg136Lys missense NM_001407688.1:c.407G>A NP_001394617.1:p.Arg136Lys missense NM_001407689.1:c.407G>A NP_001394618.1:p.Arg136Lys missense NM_001407690.1:c.407G>A NP_001394619.1:p.Arg136Lys missense NM_001407691.1:c.407G>A NP_001394620.1:p.Arg136Lys missense NM_001407692.1:c.266G>A NP_001394621.1:p.Arg89Lys missense NM_001407694.1:c.266G>A NP_001394623.1:p.Arg89Lys missense NM_001407695.1:c.266G>A NP_001394624.1:p.Arg89Lys missense NM_001407696.1:c.266G>A NP_001394625.1:p.Arg89Lys missense NM_001407697.1:c.266G>A NP_001394626.1:p.Arg89Lys missense NM_001407698.1:c.266G>A NP_001394627.1:p.Arg89Lys missense NM_001407724.1:c.266G>A NP_001394653.1:p.Arg89Lys missense NM_001407725.1:c.266G>A NP_001394654.1:p.Arg89Lys missense NM_001407726.1:c.266G>A NP_001394655.1:p.Arg89Lys missense NM_001407727.1:c.266G>A NP_001394656.1:p.Arg89Lys missense NM_001407728.1:c.266G>A NP_001394657.1:p.Arg89Lys missense NM_001407729.1:c.266G>A NP_001394658.1:p.Arg89Lys missense NM_001407730.1:c.266G>A NP_001394659.1:p.Arg89Lys missense NM_001407731.1:c.266G>A NP_001394660.1:p.Arg89Lys missense NM_001407732.1:c.266G>A NP_001394661.1:p.Arg89Lys missense NM_001407733.1:c.266G>A NP_001394662.1:p.Arg89Lys missense NM_001407734.1:c.266G>A NP_001394663.1:p.Arg89Lys missense NM_001407735.1:c.266G>A NP_001394664.1:p.Arg89Lys missense NM_001407736.1:c.266G>A NP_001394665.1:p.Arg89Lys missense NM_001407737.1:c.266G>A NP_001394666.1:p.Arg89Lys missense NM_001407738.1:c.266G>A NP_001394667.1:p.Arg89Lys missense NM_001407739.1:c.266G>A NP_001394668.1:p.Arg89Lys missense NM_001407740.1:c.266G>A NP_001394669.1:p.Arg89Lys missense NM_001407741.1:c.266G>A NP_001394670.1:p.Arg89Lys missense NM_001407742.1:c.266G>A NP_001394671.1:p.Arg89Lys missense NM_001407743.1:c.266G>A NP_001394672.1:p.Arg89Lys missense NM_001407744.1:c.266G>A NP_001394673.1:p.Arg89Lys missense NM_001407745.1:c.266G>A NP_001394674.1:p.Arg89Lys missense NM_001407746.1:c.266G>A NP_001394675.1:p.Arg89Lys missense NM_001407747.1:c.266G>A NP_001394676.1:p.Arg89Lys missense NM_001407748.1:c.266G>A NP_001394677.1:p.Arg89Lys missense NM_001407749.1:c.266G>A NP_001394678.1:p.Arg89Lys missense NM_001407750.1:c.266G>A NP_001394679.1:p.Arg89Lys missense NM_001407751.1:c.266G>A NP_001394680.1:p.Arg89Lys missense NM_001407752.1:c.266G>A NP_001394681.1:p.Arg89Lys missense NM_001407838.1:c.266G>A NP_001394767.1:p.Arg89Lys missense NM_001407839.1:c.266G>A NP_001394768.1:p.Arg89Lys missense NM_001407841.1:c.266G>A NP_001394770.1:p.Arg89Lys missense NM_001407842.1:c.266G>A NP_001394771.1:p.Arg89Lys missense NM_001407843.1:c.266G>A NP_001394772.1:p.Arg89Lys missense NM_001407844.1:c.266G>A NP_001394773.1:p.Arg89Lys missense NM_001407845.1:c.266G>A NP_001394774.1:p.Arg89Lys missense NM_001407846.1:c.266G>A NP_001394775.1:p.Arg89Lys missense NM_001407847.1:c.266G>A NP_001394776.1:p.Arg89Lys missense NM_001407848.1:c.266G>A NP_001394777.1:p.Arg89Lys missense NM_001407849.1:c.266G>A NP_001394778.1:p.Arg89Lys missense NM_001407850.1:c.266G>A NP_001394779.1:p.Arg89Lys missense NM_001407851.1:c.266G>A NP_001394780.1:p.Arg89Lys missense NM_001407852.1:c.266G>A NP_001394781.1:p.Arg89Lys missense NM_001407853.1:c.197G>A NP_001394782.1:p.Arg66Lys missense NM_001407854.1:c.407G>A NP_001394783.1:p.Arg136Lys missense NM_001407858.1:c.407G>A NP_001394787.1:p.Arg136Lys missense NM_001407859.1:c.407G>A NP_001394788.1:p.Arg136Lys missense NM_001407860.1:c.407G>A NP_001394789.1:p.Arg136Lys missense NM_001407861.1:c.407G>A NP_001394790.1:p.Arg136Lys missense NM_001407862.1:c.329G>A NP_001394791.1:p.Arg110Lys missense NM_001407863.1:c.407G>A NP_001394792.1:p.Arg136Lys missense NM_001407874.1:c.329G>A NP_001394803.1:p.Arg110Lys missense NM_001407875.1:c.329G>A NP_001394804.1:p.Arg110Lys missense NM_001407879.1:c.197G>A NP_001394808.1:p.Arg66Lys missense NM_001407881.1:c.197G>A NP_001394810.1:p.Arg66Lys missense NM_001407882.1:c.197G>A NP_001394811.1:p.Arg66Lys missense NM_001407884.1:c.197G>A NP_001394813.1:p.Arg66Lys missense NM_001407885.1:c.197G>A NP_001394814.1:p.Arg66Lys missense NM_001407886.1:c.197G>A NP_001394815.1:p.Arg66Lys missense NM_001407887.1:c.197G>A NP_001394816.1:p.Arg66Lys missense NM_001407889.1:c.197G>A NP_001394818.1:p.Arg66Lys missense NM_001407894.1:c.197G>A NP_001394823.1:p.Arg66Lys missense NM_001407895.1:c.197G>A NP_001394824.1:p.Arg66Lys missense NM_001407896.1:c.197G>A NP_001394825.1:p.Arg66Lys missense NM_001407897.1:c.197G>A NP_001394826.1:p.Arg66Lys missense NM_001407898.1:c.197G>A NP_001394827.1:p.Arg66Lys missense NM_001407899.1:c.197G>A NP_001394828.1:p.Arg66Lys missense NM_001407900.1:c.197G>A NP_001394829.1:p.Arg66Lys missense NM_001407902.1:c.197G>A NP_001394831.1:p.Arg66Lys missense NM_001407904.1:c.197G>A NP_001394833.1:p.Arg66Lys missense NM_001407906.1:c.197G>A NP_001394835.1:p.Arg66Lys missense NM_001407907.1:c.197G>A NP_001394836.1:p.Arg66Lys missense NM_001407908.1:c.197G>A NP_001394837.1:p.Arg66Lys missense NM_001407909.1:c.197G>A NP_001394838.1:p.Arg66Lys missense NM_001407910.1:c.197G>A NP_001394839.1:p.Arg66Lys missense NM_001407915.1:c.197G>A NP_001394844.1:p.Arg66Lys missense NM_001407916.1:c.197G>A NP_001394845.1:p.Arg66Lys missense NM_001407917.1:c.197G>A NP_001394846.1:p.Arg66Lys missense NM_001407918.1:c.197G>A NP_001394847.1:p.Arg66Lys missense NM_001407919.1:c.407G>A NP_001394848.1:p.Arg136Lys missense NM_001407920.1:c.266G>A NP_001394849.1:p.Arg89Lys missense NM_001407921.1:c.266G>A NP_001394850.1:p.Arg89Lys missense NM_001407922.1:c.266G>A NP_001394851.1:p.Arg89Lys missense NM_001407923.1:c.266G>A NP_001394852.1:p.Arg89Lys missense NM_001407924.1:c.266G>A NP_001394853.1:p.Arg89Lys missense NM_001407925.1:c.266G>A NP_001394854.1:p.Arg89Lys missense NM_001407926.1:c.266G>A NP_001394855.1:p.Arg89Lys missense NM_001407927.1:c.266G>A NP_001394856.1:p.Arg89Lys missense NM_001407928.1:c.266G>A NP_001394857.1:p.Arg89Lys missense NM_001407929.1:c.266G>A NP_001394858.1:p.Arg89Lys missense NM_001407930.1:c.266G>A NP_001394859.1:p.Arg89Lys missense NM_001407931.1:c.266G>A NP_001394860.1:p.Arg89Lys missense NM_001407932.1:c.266G>A NP_001394861.1:p.Arg89Lys missense NM_001407933.1:c.266G>A NP_001394862.1:p.Arg89Lys missense NM_001407934.1:c.266G>A NP_001394863.1:p.Arg89Lys missense NM_001407935.1:c.266G>A NP_001394864.1:p.Arg89Lys missense NM_001407936.1:c.266G>A NP_001394865.1:p.Arg89Lys missense NM_001407937.1:c.407G>A NP_001394866.1:p.Arg136Lys missense NM_001407938.1:c.407G>A NP_001394867.1:p.Arg136Lys missense NM_001407939.1:c.407G>A NP_001394868.1:p.Arg136Lys missense NM_001407940.1:c.407G>A NP_001394869.1:p.Arg136Lys missense NM_001407941.1:c.407G>A NP_001394870.1:p.Arg136Lys missense NM_001407942.1:c.266G>A NP_001394871.1:p.Arg89Lys missense NM_001407943.1:c.266G>A NP_001394872.1:p.Arg89Lys missense NM_001407944.1:c.266G>A NP_001394873.1:p.Arg89Lys missense NM_001407945.1:c.266G>A NP_001394874.1:p.Arg89Lys missense NM_001407946.1:c.197G>A NP_001394875.1:p.Arg66Lys missense NM_001407947.1:c.197G>A NP_001394876.1:p.Arg66Lys missense NM_001407948.1:c.197G>A NP_001394877.1:p.Arg66Lys missense NM_001407949.1:c.197G>A NP_001394878.1:p.Arg66Lys missense NM_001407950.1:c.197G>A NP_001394879.1:p.Arg66Lys missense NM_001407951.1:c.197G>A NP_001394880.1:p.Arg66Lys missense NM_001407952.1:c.197G>A NP_001394881.1:p.Arg66Lys missense NM_001407953.1:c.197G>A NP_001394882.1:p.Arg66Lys missense NM_001407954.1:c.197G>A NP_001394883.1:p.Arg66Lys missense NM_001407955.1:c.197G>A NP_001394884.1:p.Arg66Lys missense NM_001407956.1:c.197G>A NP_001394885.1:p.Arg66Lys missense NM_001407957.1:c.197G>A NP_001394886.1:p.Arg66Lys missense NM_001407958.1:c.197G>A NP_001394887.1:p.Arg66Lys missense NM_001407959.1:c.26G>A NP_001394888.1:p.Arg9Lys missense NM_001407960.1:c.26G>A NP_001394889.1:p.Arg9Lys missense NM_001407962.1:c.26G>A NP_001394891.1:p.Arg9Lys missense NM_001407963.1:c.26G>A NP_001394892.1:p.Arg9Lys missense NM_001407964.1:c.266G>A NP_001394893.1:p.Arg89Lys missense NM_001407965.1:c.26G>A NP_001394894.1:p.Arg9Lys missense NM_001407968.1:c.407G>A NP_001394897.1:p.Arg136Lys missense NM_001407969.1:c.407G>A NP_001394898.1:p.Arg136Lys missense NM_001407970.1:c.407G>A NP_001394899.1:p.Arg136Lys missense NM_001407971.1:c.407G>A NP_001394900.1:p.Arg136Lys missense NM_001407972.1:c.407G>A NP_001394901.1:p.Arg136Lys missense NM_001407973.1:c.407G>A NP_001394902.1:p.Arg136Lys missense NM_001407974.1:c.407G>A NP_001394903.1:p.Arg136Lys missense NM_001407975.1:c.407G>A NP_001394904.1:p.Arg136Lys missense NM_001407976.1:c.407G>A NP_001394905.1:p.Arg136Lys missense NM_001407977.1:c.407G>A NP_001394906.1:p.Arg136Lys missense NM_001407978.1:c.407G>A NP_001394907.1:p.Arg136Lys missense NM_001407979.1:c.407G>A NP_001394908.1:p.Arg136Lys missense NM_001407980.1:c.407G>A NP_001394909.1:p.Arg136Lys missense NM_001407981.1:c.407G>A NP_001394910.1:p.Arg136Lys missense NM_001407982.1:c.407G>A NP_001394911.1:p.Arg136Lys missense NM_001407983.1:c.407G>A NP_001394912.1:p.Arg136Lys missense NM_001407984.1:c.407G>A NP_001394913.1:p.Arg136Lys missense NM_001407985.1:c.407G>A NP_001394914.1:p.Arg136Lys missense NM_001407986.1:c.407G>A NP_001394915.1:p.Arg136Lys missense NM_001407990.1:c.407G>A NP_001394919.1:p.Arg136Lys missense NM_001407991.1:c.407G>A NP_001394920.1:p.Arg136Lys missense NM_001407992.1:c.407G>A NP_001394921.1:p.Arg136Lys missense NM_001407993.1:c.407G>A NP_001394922.1:p.Arg136Lys missense NM_001408392.1:c.407G>A NP_001395321.1:p.Arg136Lys missense NM_001408396.1:c.407G>A NP_001395325.1:p.Arg136Lys missense NM_001408397.1:c.407G>A NP_001395326.1:p.Arg136Lys missense NM_001408398.1:c.407G>A NP_001395327.1:p.Arg136Lys missense NM_001408399.1:c.407G>A NP_001395328.1:p.Arg136Lys missense NM_001408400.1:c.407G>A NP_001395329.1:p.Arg136Lys missense NM_001408401.1:c.407G>A NP_001395330.1:p.Arg136Lys missense NM_001408402.1:c.407G>A NP_001395331.1:p.Arg136Lys missense NM_001408403.1:c.407G>A NP_001395332.1:p.Arg136Lys missense NM_001408404.1:c.407G>A NP_001395333.1:p.Arg136Lys missense NM_001408406.1:c.407G>A NP_001395335.1:p.Arg136Lys missense NM_001408407.1:c.407G>A NP_001395336.1:p.Arg136Lys missense NM_001408408.1:c.398G>A NP_001395337.1:p.Arg133Lys missense NM_001408409.1:c.329G>A NP_001395338.1:p.Arg110Lys missense NM_001408410.1:c.266G>A NP_001395339.1:p.Arg89Lys missense NM_001408411.1:c.329G>A NP_001395340.1:p.Arg110Lys missense NM_001408412.1:c.329G>A NP_001395341.1:p.Arg110Lys missense NM_001408413.1:c.329G>A NP_001395342.1:p.Arg110Lys missense NM_001408414.1:c.329G>A NP_001395343.1:p.Arg110Lys missense NM_001408415.1:c.329G>A NP_001395344.1:p.Arg110Lys missense NM_001408416.1:c.329G>A NP_001395345.1:p.Arg110Lys missense NM_001408418.1:c.407G>A NP_001395347.1:p.Arg136Lys missense NM_001408419.1:c.407G>A NP_001395348.1:p.Arg136Lys missense NM_001408420.1:c.407G>A NP_001395349.1:p.Arg136Lys missense NM_001408421.1:c.407G>A NP_001395350.1:p.Arg136Lys missense NM_001408422.1:c.407G>A NP_001395351.1:p.Arg136Lys missense NM_001408423.1:c.407G>A NP_001395352.1:p.Arg136Lys missense NM_001408424.1:c.407G>A NP_001395353.1:p.Arg136Lys missense NM_001408425.1:c.407G>A NP_001395354.1:p.Arg136Lys missense NM_001408426.1:c.407G>A NP_001395355.1:p.Arg136Lys missense NM_001408427.1:c.407G>A NP_001395356.1:p.Arg136Lys missense NM_001408428.1:c.407G>A NP_001395357.1:p.Arg136Lys missense NM_001408429.1:c.407G>A NP_001395358.1:p.Arg136Lys missense NM_001408430.1:c.407G>A NP_001395359.1:p.Arg136Lys missense NM_001408431.1:c.407G>A NP_001395360.1:p.Arg136Lys missense NM_001408432.1:c.407G>A NP_001395361.1:p.Arg136Lys missense NM_001408433.1:c.407G>A NP_001395362.1:p.Arg136Lys missense NM_001408434.1:c.407G>A NP_001395363.1:p.Arg136Lys missense NM_001408435.1:c.407G>A NP_001395364.1:p.Arg136Lys missense NM_001408436.1:c.407G>A NP_001395365.1:p.Arg136Lys missense NM_001408437.1:c.407G>A NP_001395366.1:p.Arg136Lys missense NM_001408438.1:c.407G>A NP_001395367.1:p.Arg136Lys missense NM_001408439.1:c.407G>A NP_001395368.1:p.Arg136Lys missense NM_001408440.1:c.407G>A NP_001395369.1:p.Arg136Lys missense NM_001408441.1:c.407G>A NP_001395370.1:p.Arg136Lys missense NM_001408442.1:c.407G>A NP_001395371.1:p.Arg136Lys missense NM_001408443.1:c.407G>A NP_001395372.1:p.Arg136Lys missense NM_001408444.1:c.407G>A NP_001395373.1:p.Arg136Lys missense NM_001408445.1:c.407G>A NP_001395374.1:p.Arg136Lys missense NM_001408446.1:c.407G>A NP_001395375.1:p.Arg136Lys missense NM_001408447.1:c.407G>A NP_001395376.1:p.Arg136Lys missense NM_001408448.1:c.407G>A NP_001395377.1:p.Arg136Lys missense NM_001408450.1:c.407G>A NP_001395379.1:p.Arg136Lys missense NM_001408451.1:c.275G>A NP_001395380.1:p.Arg92Lys missense NM_001408452.1:c.266G>A NP_001395381.1:p.Arg89Lys missense NM_001408453.1:c.266G>A NP_001395382.1:p.Arg89Lys missense NM_001408454.1:c.266G>A NP_001395383.1:p.Arg89Lys missense NM_001408455.1:c.266G>A NP_001395384.1:p.Arg89Lys missense NM_001408456.1:c.266G>A NP_001395385.1:p.Arg89Lys missense NM_001408457.1:c.266G>A NP_001395386.1:p.Arg89Lys missense NM_001408458.1:c.266G>A NP_001395387.1:p.Arg89Lys missense NM_001408459.1:c.266G>A NP_001395388.1:p.Arg89Lys missense NM_001408460.1:c.266G>A NP_001395389.1:p.Arg89Lys missense NM_001408461.1:c.266G>A NP_001395390.1:p.Arg89Lys missense NM_001408462.1:c.266G>A NP_001395391.1:p.Arg89Lys missense NM_001408463.1:c.266G>A NP_001395392.1:p.Arg89Lys missense NM_001408464.1:c.266G>A NP_001395393.1:p.Arg89Lys missense NM_001408465.1:c.266G>A NP_001395394.1:p.Arg89Lys missense NM_001408466.1:c.266G>A NP_001395395.1:p.Arg89Lys missense NM_001408467.1:c.266G>A NP_001395396.1:p.Arg89Lys missense NM_001408468.1:c.266G>A NP_001395397.1:p.Arg89Lys missense NM_001408469.1:c.266G>A NP_001395398.1:p.Arg89Lys missense NM_001408470.1:c.266G>A NP_001395399.1:p.Arg89Lys missense NM_001408472.1:c.407G>A NP_001395401.1:p.Arg136Lys missense NM_001408473.1:c.407G>A NP_001395402.1:p.Arg136Lys missense NM_001408474.1:c.329G>A NP_001395403.1:p.Arg110Lys missense NM_001408475.1:c.329G>A NP_001395404.1:p.Arg110Lys missense NM_001408476.1:c.329G>A NP_001395405.1:p.Arg110Lys missense NM_001408478.1:c.197G>A NP_001395407.1:p.Arg66Lys missense NM_001408479.1:c.197G>A NP_001395408.1:p.Arg66Lys missense NM_001408480.1:c.197G>A NP_001395409.1:p.Arg66Lys missense NM_001408481.1:c.197G>A NP_001395410.1:p.Arg66Lys missense NM_001408482.1:c.197G>A NP_001395411.1:p.Arg66Lys missense NM_001408483.1:c.197G>A NP_001395412.1:p.Arg66Lys missense NM_001408484.1:c.197G>A NP_001395413.1:p.Arg66Lys missense NM_001408485.1:c.197G>A NP_001395414.1:p.Arg66Lys missense NM_001408489.1:c.197G>A NP_001395418.1:p.Arg66Lys missense NM_001408490.1:c.197G>A NP_001395419.1:p.Arg66Lys missense NM_001408491.1:c.197G>A NP_001395420.1:p.Arg66Lys missense NM_001408492.1:c.197G>A NP_001395421.1:p.Arg66Lys missense NM_001408493.1:c.197G>A NP_001395422.1:p.Arg66Lys missense NM_001408494.1:c.407G>A NP_001395423.1:p.Arg136Lys missense NM_001408495.1:c.407G>A NP_001395424.1:p.Arg136Lys missense NM_001408496.1:c.266G>A NP_001395425.1:p.Arg89Lys missense NM_001408497.1:c.266G>A NP_001395426.1:p.Arg89Lys missense NM_001408498.1:c.266G>A NP_001395427.1:p.Arg89Lys missense NM_001408499.1:c.266G>A NP_001395428.1:p.Arg89Lys missense NM_001408500.1:c.266G>A NP_001395429.1:p.Arg89Lys missense NM_001408501.1:c.266G>A NP_001395430.1:p.Arg89Lys missense NM_001408502.1:c.197G>A NP_001395431.1:p.Arg66Lys missense NM_001408503.1:c.266G>A NP_001395432.1:p.Arg89Lys missense NM_001408504.1:c.266G>A NP_001395433.1:p.Arg89Lys missense NM_001408505.1:c.266G>A NP_001395434.1:p.Arg89Lys missense NM_001408506.1:c.197G>A NP_001395435.1:p.Arg66Lys missense NM_001408507.1:c.197G>A NP_001395436.1:p.Arg66Lys missense NM_001408508.1:c.197G>A NP_001395437.1:p.Arg66Lys missense NM_001408509.1:c.197G>A NP_001395438.1:p.Arg66Lys missense NM_001408510.1:c.26G>A NP_001395439.1:p.Arg9Lys missense NM_001408511.1:c.266G>A NP_001395440.1:p.Arg89Lys missense NM_001408512.1:c.26G>A NP_001395441.1:p.Arg9Lys missense NM_001408513.1:c.197G>A NP_001395442.1:p.Arg66Lys missense NM_001408514.1:c.197G>A NP_001395443.1:p.Arg66Lys missense NM_007297.4:c.266G>A NP_009228.2:p.Arg89Lys missense NM_007298.4:c.407G>A NP_009229.2:p.Arg136Lys missense NM_007299.4:c.407G>A NP_009230.2:p.Arg136Lys missense NM_007300.4:c.407G>A NP_009231.2:p.Arg136Lys missense NM_007304.2:c.407G>A NP_009235.2:p.Arg136Lys missense NR_027676.2:n.587G>A non-coding transcript variant NC_000017.11:g.43104156C>T NC_000017.10:g.41256173C>T NG_005905.2:g.113828G>A LRG_292:g.113828G>A LRG_292t1:c.407G>A LRG_292p1:p.Arg136Lys - Protein change
- R136K, R89K, R110K, R133K, R66K, R9K, R92K
- Other names
- -
- Canonical SPDI
- NC_000017.11:43104155:C:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD), exomes 0.00000
- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12940 | 14730 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Uncertain significance (1) |
criteria provided, single submitter
|
Jul 20, 2020 | RCV001359534.7 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
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Uncertain significance
(Jul 20, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV001555408.4
First in ClinVar: Apr 13, 2021 Last updated: Feb 28, 2024 |
Comment:
Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) … (more)
Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with lysine at codon 136 of the BRCA1 protein (p.Arg136Lys). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and lysine. (less)
|
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs1437476481 ...
HelpRecord last updated Jul 15, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.